Q8N6G6 (ATL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 100.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: ADAMTS-like protein 1 Short name=ADAMTSL-1 Alternative name(s): Punctin-1 | ||||||
| Gene names |
| ||||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1762 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Subunit structure | Monomer. Ref.1 |
| Subcellular location | Secreted › extracellular space › extracellular matrix Ref.1 Ref.8 Ref.9. |
| Tissue specificity | Expressed primarily in adult skeletal muscle. Ref.1 |
| Post-translational modification | C-, N- and O-glycosylated. O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTSL1. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion. Ref.1 Ref.8 Ref.9 Disulfide bonds are present. |
| Sequence similarities | Contains 4 Ig-like C2-type (immunoglobulin-like) domains. Contains 1 PLAC domain. Contains 9 TSP type-1 domains. |
| Caution | Although strongly similar to members of the ADAMTS family it lacks the metalloprotease and disintegrin-like domains which are typical of that family. |
| Mass spectrometry | Isoform 1: Molecular mass is 61935±595 Da from positions 28 - 525. Determined by MALDI. Ref.1 |
| Sequence caution | The sequence AAI00789.1 differs from that shown. Reason: Frameshift at position 1312. The sequence AAI00791.1 differs from that shown. Reason: Frameshift at position 1312. The sequence AAK34948.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Extracellular matrix Secreted |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Immunoglobulin domain Repeat Signal |
| Molecular function | Hydrolase |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Direct protein sequencing Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | proteinaceous extracellular matrix Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | metallopeptidase activity Inferred from electronic annotation. Source: InterPro zinc ion bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 3 (identifier: Q8N6G6-3) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 1 (identifier: Q8N6G6-1) The sequence of this isoform differs from the canonical sequence as follows: 526-1762: Missing. | ||||||
| Isoform 2 (identifier: Q8N6G6-2) The sequence of this isoform differs from the canonical sequence as follows: 362-378: Missing. 448-456: CTVTCGQGL → VTVPSFFVH 457-1762: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q8N6G6-4) The sequence of this isoform differs from the canonical sequence as follows: 670-683: WEIGKWSPCSLTCG → SSIDSAWNACNVLC 684-1762: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q8N6G6-5) The sequence of this isoform differs from the canonical sequence as follows: 1-1299: Missing. 1300-1311: QGVNVTINCQVA → MSGVFCFFFFFL 1549-1557: WMVTSWSAC → AMGLASGLT 1558-1762: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 6 (identifier: Q8N6G6-6) The sequence of this isoform differs from the canonical sequence as follows: 1-1299: Missing. 1300-1311: QGVNVTINCQVA → MSGVFCFFFFFL |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 28 | 28 | |||||||||
| Chain | 29 – 1762 | 1734 | ADAMTS-like protein 1 | PRO_0000035860 | |||||||
Regions | |||||||||||
| Domain | 33 – 82 | 50 | TSP type-1 1 | ||||||||
| Domain | 376 – 424 | 49 | TSP type-1 2 | ||||||||
| Domain | 436 – 493 | 58 | TSP type-1 3 | ||||||||
| Domain | 522 – 584 | 63 | TSP type-1 4 | ||||||||
| Domain | 607 – 665 | 59 | TSP type-1 5 | ||||||||
| Domain | 666 – 729 | 64 | TSP type-1 6 | ||||||||
| Domain | 788 – 850 | 63 | TSP type-1 7 | ||||||||
| Domain | 861 – 963 | 103 | Ig-like C2-type 1 | ||||||||
| Domain | 1164 – 1266 | 103 | Ig-like C2-type 2 | ||||||||
| Domain | 1286 – 1369 | 84 | Ig-like C2-type 3 | ||||||||
| Domain | 1395 – 1485 | 91 | Ig-like C2-type 4 | ||||||||
| Domain | 1545 – 1608 | 64 | TSP type-1 8 | ||||||||
| Domain | 1666 – 1726 | 61 | TSP type-1 9 | ||||||||
| Domain | 1726 – 1762 | 37 | PLAC | ||||||||
Sites | |||||||||||
| Site | 36 | 1 | Not glycosylated | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 39 | 1 | C-linked (Man) Ref.9 | ||||||||
| Glycosylation | 42 | 1 | C-linked (Man) Ref.9 | ||||||||
| Glycosylation | 48 | 1 | O-linked (Fuc...) Ref.9 | ||||||||
| Glycosylation | 251 | 1 | N-linked (GlcNAc...) Ref.8 | ||||||||
| Glycosylation | 312 | 1 | O-linked (Fuc...) Ref.8 | ||||||||
| Glycosylation | 391 | 1 | O-linked (Fuc...) Ref.8 | ||||||||
| Glycosylation | 451 | 1 | O-linked (Fuc...) Ref.8 | ||||||||
| Disulfide bond | 45 ↔ 76 | By similarity | |||||||||
| Disulfide bond | 49 ↔ 81 | By similarity | |||||||||
| Disulfide bond | 60 ↔ 66 | By similarity | |||||||||
| Disulfide bond | 534 ↔ 578 | By similarity | |||||||||
| Disulfide bond | 538 ↔ 583 | By similarity | |||||||||
| Disulfide bond | 549 ↔ 567 | By similarity | |||||||||
| Disulfide bond | 678 ↔ 723 | By similarity | |||||||||
| Disulfide bond | 682 ↔ 728 | By similarity | |||||||||
| Disulfide bond | 693 ↔ 712 | By similarity | |||||||||
| Disulfide bond | 800 ↔ 844 | By similarity | |||||||||
| Disulfide bond | 804 ↔ 849 | By similarity | |||||||||
| Disulfide bond | 815 ↔ 832 | By similarity | |||||||||
| Disulfide bond | 899 ↔ 947 | By similarity | |||||||||
| Disulfide bond | 1202 ↔ 1250 | By similarity | |||||||||
| Disulfide bond | 1308 ↔ 1353 | By similarity | |||||||||
| Disulfide bond | 1418 ↔ 1469 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1 – 1299 | 1299 | Missing in isoform 5 and isoform 6. | VSP_039322 | |||||||
| Alternative sequence | 362 – 378 | 17 | Missing in isoform 2. | VSP_039323 | |||||||
| Alternative sequence | 448 – 456 | 9 | CTVTCGQGL → VTVPSFFVH in isoform 2. | VSP_039324 | |||||||
| Alternative sequence | 457 – 1762 | 1306 | Missing in isoform 2. | VSP_039325 | |||||||
| Alternative sequence | 526 – 1762 | 1237 | Missing in isoform 1. | VSP_039326 | |||||||
| Alternative sequence | 670 – 683 | 14 | WEIGK…SLTCG → SSIDSAWNACNVLC in isoform 4. | VSP_039327 | |||||||
| Alternative sequence | 684 – 1762 | 1079 | Missing in isoform 4. | VSP_039328 | |||||||
| Alternative sequence | 1300 – 1311 | 12 | QGVNV…NCQVA → MSGVFCFFFFFL in isoform 5 and isoform 6. | VSP_039329 | |||||||
| Alternative sequence | 1549 – 1557 | 9 | WMVTSWSAC → AMGLASGLT in isoform 5. | VSP_039330 | |||||||
| Alternative sequence | 1558 – 1762 | 205 | Missing in isoform 5. | VSP_039331 | |||||||
| Natural variant | 242 | 1 | S → N. Corresponds to variant rs776755 [ dbSNP | Ensembl ]. | VAR_017174 | |||||||
Experimental info | |||||||||||
| Mutagenesis | 36 | 1 | W → A: Small reduction in secretion of ADAMTSL1. Ref.9 | ||||||||
| Mutagenesis | 39 | 1 | W → A: Significant reduction in secretion of ADAMTSL1. Ref.9 | ||||||||
| Mutagenesis | 39 | 1 | W → F: Abolishes secretion of ADAMTSL1. Ref.9 | ||||||||
| Mutagenesis | 42 | 1 | W → A: Modest reduction in secretion of ADAMTSL1. Ref.9 | ||||||||
| Mutagenesis | 42 | 1 | W → F: Abolishes secretion of ADAMTSL1. Ref.9 | ||||||||
| Mutagenesis | 251 | 1 | N → Q: Abolishes N-glycosylation. Reduces secretion of ADAMTSL1. | ||||||||
| Mutagenesis | 312 | 1 | T → A: Small increase in secretion of ADAMTSL1. About 40% increase in secretion of ADAMTSL1; when associated with A-391. Dramatic increase in secretion of ADAMTSL1; when associated with A-391 and A-451. | ||||||||
| Mutagenesis | 385 | 1 | W → A: Significant reduction in secretion of ADAMTSL1. Ref.9 | ||||||||
| Mutagenesis | 385 | 1 | W → F: No effect on secretion of ADAMTSL1. Ref.9 | ||||||||
| Mutagenesis | 391 | 1 | S → A: Small increase in secretion of ADAMTSL1. About 40% increase in secretion of ADAMTSL1; when associated with A-312. Dramatic increase in secretion of ADAMTSL1; when associated with A-312 and A-451. | ||||||||
| Mutagenesis | 445 | 1 | W → A: Modest reduction in secretion of ADAMTSL1. Ref.9 | ||||||||
| Mutagenesis | 451 | 1 | T → A: Small increase in secretion of ADAMTSL1. Dramatic increase in secretion of ADAMTSL1; when associated with A-312 and A-391. | ||||||||
| Sequence conflict | 54 – 55 | 2 | SY → AN in AAK84170. Ref.1 | ||||||||
| Sequence conflict | 208 | 1 | I → L in AAQ88693. Ref.2 | ||||||||
| Sequence conflict | 1409 | 1 | D → G in BAC03925. Ref.3 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Punctin, a novel ADAMTS-like molecule, ADAMTSL-1, in extracellular matrix." Hirohata S., Wang L.W., Miyagi M., Yan L., Seldin M.F., Keene D.R., Crabb J.W., Apte S.S. J. Biol. Chem. 277:12182-12189(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PARTIAL PROTEIN SEQUENCE, SUBUNIT, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, GLYCOSYLATION, MASS SPECTROMETRY, DISULFIDE BONDS. |
| [2] | "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5). Tissue: Prostate. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [4] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 6). Tissue: Lung. |
| [7] | Mao Y., Xie Y., Zhou Z., Zhao W., Zhao S., Wang W., Huang Y., Wang S., Tang R., Chen X., Wu C. Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 214-1762 (ISOFORM 4). |
| [8] | "O-fucosylation of thrombospondin type 1 repeats in ADAMTS-like-1/punctin-1 regulates secretion: implications for the ADAMTS superfamily." Wang L.W., Dlugosz M., Somerville R.P., Raed M., Haltiwanger R.S., Apte S.S. J. Biol. Chem. 282:17024-17031(2007) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION AT ASN-251; THR-312; SER-391 AND THR-451, SUBCELLULAR LOCATION, MASS SPECTROMETRY. |
| [9] | "Post-translational modification of thrombospondin type-1 repeats in ADAMTS-like 1/punctin-1 by C-mannosylation of tryptophan." Wang L.W., Leonhard-Melief C., Haltiwanger R.S., Apte S.S. J. Biol. Chem. 284:30004-30015(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION AT TRP-39; TRP-42 AND THR-48, LACK OF GLYCOSYLATION AT TRP-36, SUBCELLULAR LOCATION, MASS SPECTROMETRY, MUTAGENESIS OF TRP-36; TRP-39; TRP-42; TRP-385 AND TRP-445. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF176313 mRNA. Translation: AAK84170.1. AY358327 mRNA. Translation: AAQ88693.1. AK092602 mRNA. Translation: BAC03925.1. AK291956 mRNA. Translation: BAF84645.1. AL158150 Genomic DNA. Translation: CAO03592.1. AL353895, AL442638, AL449963 Genomic DNA. Translation: CAI14851.1. AL591423 Genomic DNA. No translation available. CH471071 Genomic DNA. Translation: EAW58656.1. BC030262 mRNA. Translation: AAH30262.1. BC100788 mRNA. Translation: AAI00789.1. Frameshift. BC100790 mRNA. Translation: AAI00791.1. Frameshift. AF251058 mRNA. Translation: AAK34948.1. Different initiation. |
| IPI | IPI00157513. IPI00377098. IPI00414931. IPI00953341. IPI00967648. IPI00973465. |
| RefSeq | NP_001035362.3. NM_001040272.5. NP_443098.3. NM_052866.4. |
| UniGene | Hs.741483. |
3D structure databases | |
| ProteinModelPortal | Q8N6G6. |
| SMR | Q8N6G6. Positions 34-296, 1165-1532. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000369921. |
PTM databases | |
| PhosphoSite | Q8N6G6. |
Polymorphism databases | |
| DMDM | 298286924. |
Proteomic databases | |
| PaxDb | Q8N6G6. |
| PRIDE | Q8N6G6. |
Protocols and materials databases | |
| DNASU | 92949. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000276935; ENSP00000276935; ENSG00000178031. ENST00000327883; ENSP00000327887; ENSG00000178031. ENST00000380545; ENSP00000369918; ENSG00000178031. ENST00000380548; ENSP00000369921; ENSG00000178031. ENST00000380566; ENSP00000369940; ENSG00000178031. ENST00000542621; ENSP00000440472; ENSG00000178031. |
| GeneID | 92949. |
| KEGG | hsa:92949. |
| UCSC | uc003znb.3. human. uc003znc.4. human. uc003zne.4. human. uc003znf.4. human. |
Organism-specific databases | |
| CTD | 92949. |
| GeneCards | GC09P018464. |
| H-InvDB | HIX0007941. |
| HGNC | HGNC:14632. ADAMTSL1. |
| MIM | 609198. gene. |
| neXtProt | NX_Q8N6G6. |
| PharmGKB | PA24554. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG272362. |
| HOVERGEN | HBG068818. |
| InParanoid | Q8N6G6. |
| OMA | LTCGVGL. |
Enzyme and pathway databases | |
| SignaLink | Q8N6G6. |
Gene expression databases | |
| ArrayExpress | Q8N6G6. |
| Bgee | Q8N6G6. |
| CleanEx | HS_ADAMTSL1. |
| Genevestigator | Q8N6G6. |
| GermOnline | ENSG00000147892. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.60.40.10. 4 hits. |
| InterPro | IPR007110. Ig-like_dom. IPR013783. Ig-like_fold. IPR013098. Ig_I-set. IPR003598. Ig_sub2. IPR013273. Peptidase_M12B_ADAM-TS. IPR010909. PLAC. IPR000884. Thrombospondin_1_rpt. [Graphical view] |
| Pfam | PF07679. I-set. 4 hits. PF08686. PLAC. 1 hit. PF00090. TSP_1. 8 hits. [Graphical view] |
| PRINTS | PR01857. ADAMTSFAMILY. |
| SMART | SM00408. IGc2. 4 hits. SM00209. TSP1. 13 hits. [Graphical view] |
| SUPFAM | SSF82895. TSP1. 13 hits. |
| PROSITE | PS50835. IG_LIKE. 4 hits. PS50900. PLAC. 1 hit. PS50092. TSP1. 9 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 92949. |
| NextBio | 77924. |
| SOURCE | Search... |
Entry information
| Entry name | ATL1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8N6G6 Secondary accession number(s): A6PVN1 Q9BXY3 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
